scholarly journals EVALUATION OF GLUTATHIONE-S-TRANSFERASE P1 POLYMORPHISM AND ITS RELATION TO BONE MINERAL DENSITY IN EGYPTIAN CHILDREN AND ADOLESCENTS WITH BETA- THALASSEMIA MAJOR

2016 ◽  
Vol 8 ◽  
pp. 2016004 ◽  
Author(s):  
Seham Ragab
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Z Score ◽  
Glutathione S Transferase ◽  
Mineral Density ◽  
Beta Thalassemia Major ◽  
Egyptian Children ◽  
Z Scores

Background:Osteoporosis is a major problem in beta thalassemia major (TM) patients. Increased oxidative stress and its controlling genes were linked to osteoporosis. Glutathione S-transferase P1 (GSTP1),Ile105 Val variant  is a functional  mutation with  reduced ant-oxidative property  .No data are available about this variant  or its association with osteoporosis  among thalassemia patients yet. Objectives: The aim of this study was to investigate Ile105Val polymorphism and its possible association with bone mineral density (BMD) values in a group of TM  children. Methods:Thirty five TM patients and 30 age and sex matched healthy controls were included. Liver and renal functions, serum ferritin, calcium, phosphorous, alkaline phosphatase and osteocalcin were assayed. BMD was determined by DXA with calculation of  Z-scores at lumbar spine (Ls) and femoral neck (Fn).Height for age z- score (HAZ) adjusted BMD Z-scores were considered . GSTP1 Ile105Val polymorphism was studied by polymerase chain reaction-restriction fragment length polymorphism. Results:The relative frequency of 105 Val allele was significantly higher in TM patients than the controls (P<0.0001). Significant association between genotype subgroups and BMD parameters was detected. Mutant homozygotes had significant lower BMD , Z –score and haz -adjusted BMD  Z-score at both Ls and Fn compared to wild homozygotes ( Ps =0.029, 0.008, 0.011, 0.001,0.02, 0.001) with significant higher osteocalcin level compared to heterozygotes and wild homozygotes (P=0.012 and P=0.013,respectively). Conclusion:  The results indicated that 105Val allele was frequent among TM patients and could increase their susceptibility to osteoporosis. Large sample studies are required to confirm these findings.  

Bone mineral density in children and young adults with beta-thalassemia major conventionally treated

2006 ◽  
Vol 47 (1) ◽  
pp. 113-114 ◽  
Author(s):  
Athanasios Christoforidis ◽  
Emmanouil Hatzipantelis ◽  
Ioanna Tsatra ◽  
Eirini Kazantzidou ◽  
George Katzos ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Young Adults ◽  
Bone Mineral ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Mineral Density ◽  
Beta Thalassemia Major ◽  
Children And Young Adults

scholarly journals BONE MINERAL DENSITY AND VITAMIN D RECEPTOR GENETIC VARIANTS IN EGYPTIAN CHILDREN WITH BETA THALASSEMIA ON VITAMIN D SUPPLEMENTATION

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Hadeer A Abbassy ◽  
Reham Abdel Haleem Abo Elwafa ◽  
Omneya Magdy Omar
Keyword(s):  
Bone Mineral Density ◽  
Vitamin D ◽  
Bone Mineral ◽  
Genetic Variants ◽  
Vitamin D Supplementation ◽  
Beta Thalassemia ◽  
Z Score ◽  
Mineral Density ◽  
Vitamin D Receptors ◽  
Egyptian Children

Background: Low bone mineral density (BMD) is a characteristic feature of Beta thalassemia major (βTM) patients. Vitamin D is important for bone mineralization. Vitamin D receptors (VDR) genetic variants may be related to vitamin D status and BMD.Objectives:  To evaluate the effect of VDR genetic variants on vitamin D levels and BMD in βTM Egyptian patients supplemented with vitamin D.Methods: This study was conducted on forty children with βTM and forty unrelated healthy sex and age-matched controls. Serum calcium, phosphorus, ALP, ferritin and vitamin D were measured. VDR genetic variants (BsmI, TaqI, and FokI) were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). BMD was measured by dual-energy X-ray densitometry (DEXA) of the lumbar spine.Results: In βTM patients, 22.5% had deficient, 50% had insufficient and only 27.5% had sufficient levels of vitamin D. BMD Z score was significantly lower in βTM patients compared to controls (p<0.001). Osteopenia and osteoporosis of lumbar spines were observed in 70% and 22.5% of βTM patients respectively. BsmI bb and FokI Ff and ff genotypic variants were significantly associated with lower vitamin D and BMD Z score. No association was observed with TaqI genotypic variants.Conclusions: We reported a high prevalence of low BMD in βTM despite vitamin D supplementation. The BsmI bb, FokI Ff and ff genotypic variants of VDR can be considered as risk factors for the occurrence of osteoporosis in these children. Vitamin D doses should be adjusted individually according to the genetic makeup of each patient.

scholarly journals Zoledronic Acid for Treatment of Low Bone Mineral Density in Patients with Beta Thalassemia Major

2018 ◽  
Vol 34 (4) ◽  
pp. 648-652
Author(s):  
Rahul Naithani ◽  
Tulika Seth ◽  
Nikhil Tandon ◽  
Jagdish Chandra ◽  
V. P. Choudhry ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Zoledronic Acid ◽  
Bone Mineral ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Mineral Density ◽  
Low Bone Mineral Density ◽  
Beta Thalassemia Major

scholarly journals Fractures and Low Bone Mineral Density in Patients with Beta Thalassemia Major

2017 ◽  
Vol 34 (1) ◽  
pp. 163-165 ◽  
Author(s):  
Rahul Naithani ◽  
Tulika Seth ◽  
Nikhil Tandon ◽  
Jagdish Chandra ◽  
H. Pati ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Mineral Density ◽  
Low Bone Mineral Density ◽  
Beta Thalassemia Major

Bone mineral density in children with beta-thalassemia major in Diyarbakir

Bone ◽  
2011 ◽  
Vol 49 (4) ◽  
pp. 819-823 ◽  
Author(s):  
Ayfer Gözü Pirinççioğlu ◽  
Veysi Akpolat ◽  
Orhan Köksal ◽  
Kenan Haspolat ◽  
Murat Söker
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Mineral Density ◽  
Beta Thalassemia Major

Evaluation of Bone Mineral Density in Children with Sickle Cell Anemia.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 106-106
Author(s):  
Ashutosh Lal ◽  
Ellen Fung ◽  
Bamidele Kammen ◽  
Zahra Pakbaz ◽  
Nancy Sweeters ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Lumbar Spine ◽  
Sickle Cell ◽  
Bone Mineral ◽  
Reference Data ◽  
Growth Failure ◽  
Red Cell ◽  
Z Score ◽  
Mineral Density ◽  
Z Scores

Abstract Background : Reduced bone mineral density (BMD) has been reported in adults and children with sickle cell anemia (SCA). Dual energy x-ray absorptiometry (DXA) is routinely used for measuring BMD because of less radiation exposure and lower cost. However, changes in vertebral body shape, marrow hyperplasia and bone infarction due to SCA may affect the evaluation of BMD with DXA. Hence, we compared DXA with quantitative computerized tomography (QCT), which measures true volumetric density, and may be less influenced by bone changes. Methods : The study enrolled children between 9–19 years of age with SCA, and one or more severe manifestations: &gt;2 hospital admissions/year, growth failure, avascular necrosis, or regular red cell transfusions for sickle cell-related complications. BMD of lumbar spine was determined by performing DXA of lumbar spine (Hologic Delphi-A, Bedford, MA). The apparent volumetric bone mineral density (BMAD) was calculated from bone mineral content, and compared to age, sex and ethnicity-matched reference data. BMD of the lumbar spine was also measured by QCT (Mindways Software, San Francisco, CA), and compared to age and sex-appropriate reference data. Results : The study has enrolled 25 patients (13 females and 12 males), of which 16 were younger than 14 years. In 6 children the height was &lt;10th centile for age. Thirteen patients were on regular transfusions for &gt;6 months, including 10 who had been transfused for &gt;2 years. Calcium intake, assessed by a standardized questionnaire, was less than recommended dietary allowance in 13 patients. The z-score for BMAD determined by DXA was &gt; −1.0 in 8, between −1.0 and −2.0 in 5, and &lt; −2.0 in 12 patients. The z-score for lumbar spine by QCT was &gt; −1.0 in 20, between −1.0 and −2.0 in 1 and &lt; −2.0 in 4 patients. DXA-derived BMD (areal density) and BMAD (apparent volumetric density) z-scores did not differ significantly (p=0.16). On the other hand, the paired values of z-scores by DXA (BMAD) and QCT were significantly different (p=.002). When z-scores were categorized as greater or less than −1.0, the results were concordant in 13 (both DXA and QCT normal in 8, and both DXA and QCT abnormal in 5), and discordant in 12 cases (abnormal DXA with normal QCT in every case). Among patients in discordant group, 9/12 had been on regular red cell transfusions for &gt;6 months, compared to 4/13 with concordant results (p=.047). There was no difference in the serum ferritin values between the two groups (p=.685). No significant difference in the prevalence of low BMAD z-scores was detected between groups based upon age, calcium intake, or growth failure. Five out of the 12 patients with BMAD z-score &lt; −2.0 were not on regular transfusion program. Conclusions : Almost half of the children with SCA had BMD below −2 standard deviations compared to age-matched controls. Low BMD was observed in chronically transfused as well as non-transfused children. In comparison, 16% of the patients were classified as low BMD (z &lt; −2.0) by QCT. The paired DXA/QCT results were discordant in half of the sample, with patients on regular transfusions for &gt;6 months more likely to have normal QCT results. It is likely that the reduction in marrow hyperplasia following initiation of regular transfusions may disproportionately affect the trabecular BMD measured by QCT. Longitudinal evaluation of BMD in patients starting on transfusion program could help to define the effect of transfusions on measures of BMD in SCA.

scholarly journals Tracking of Bone Mass and Density during Childhood and Adolescence

2010 ◽  
Vol 95 (4) ◽  
pp. 1690-1698 ◽  
Author(s):  
Heidi J. Kalkwarf ◽  
Vicente Gilsanz ◽  
Joan M. Lappe ◽  
Sharon Oberfield ◽  
John A. Shepherd ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Bone Density ◽  
Bone Mineral ◽  
Sexual Maturation ◽  
Childhood And Adolescence ◽  
Z Score ◽  
Mineral Density ◽  
Growth Status ◽  
Low Bone Density ◽  
Z Scores

Abstract Context: Whether a child with low bone mineral density (BMD) at one point in time will continue to have low BMD, despite continued growth and maturation, is important clinically. The stability of a characteristic during growth is referred to as “tracking.” Objective: We examined the degree of tracking in bone mineral content (BMC) and BMD during childhood and adolescence and investigated whether tracking varied according to age, sexual maturation, and changes in growth status. Design: We conducted a longitudinal study with measurements at baseline and annually for 3 yr. Setting: The Bone Mineral Density in Childhood Study was conducted at five clinical centers in the United States. Study Participants: A total of 1554 girls and boys, ages 6–16 yr at baseline, participated in the study. Main Outcome Measures: Whole body, spine, hip, and forearm BMC and BMD were measured by dual-energy x-ray absorptiometry, and age-, sex-, and race-specific Z-scores were calculated. Deviation from tracking was calculated as the Z-score at yr 3 minus baseline. Results: Correlations between Z-scores at baseline and yr 3 ranged from 0.76–0.88. Among children with a Z-score below −1.5 at baseline, 72–87% still had a Z-score below −1 after 3 yr. Age, sexual maturation, and deviations in growth status (P &lt; 0.01) were associated with deviation from tracking; however, tracking was strongly evident even after adjusting for the effects of age, maturation, and growth. Conclusions: Bone density showed a high degree of tracking over 3 yr in children and adolescents. Healthy children with low bone density will likely continue to have low bone density unless effective interventions are instituted.

scholarly journals OR27-04 Risk Factors For Low Baseline Bone Mineral Density In Gender Diverse Youth

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Juanita K Hodax ◽  
Charles Brady ◽  
Sara A DiVall ◽  
Kristen Carlin ◽  
Hedieh Khalatbari ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Vitamin D ◽  
Hormone Therapy ◽  
Bone Mineral ◽  
Calcium Intake ◽  
Z Score ◽  
Mineral Density ◽  
Transgender Youth ◽  
Z Scores ◽  
Dxa Scans

Abstract Background Sex steroids such as testosterone and estrogen are necessary for accumulation of bone mass. Transgender youth treated with gonadotropin releasing hormone analogues (GnRHa) to block natal puberty for gender-affirming care are at risk of low bone mineral density (BMD). Previous studies indicate that transfemale patients assigned male at birth (AMAB) have low BMD at baseline, during and after GnRHa treatment despite cross hormone treatment. Transmales assigned female at birth (AFAB), however, have normal BMD at baseline that decreases upon GnRHa treatment, with normalization upon cross hormone therapy. The reason(s) for the low baseline BMD in transfemales is unclear. We aimed to assess the baseline characteristics of transgender youth at a single multidisciplinary gender clinic prior to medical intervention and determine factors associated with BMD. Methods This is a retrospective chart review of patients &lt;19 years old evaluated in the gender clinic. Dual-energy x-ray absorptiometry (DXA) scans were obtained prior to initiation of GnRHa or cross-hormone therapy per Endocrine Society guidelines for the treatment of gender dysphoria. We included patients with DXA scans completed prior to initiation of treatment with GnRHa or cross gender hormones and excluded those with concurrent medical diagnoses that may affect bone density. Data collected were bone mineral density (BMD) Z-scores, anthropometric data, vitamin D and calcium levels, and calcium intake. Multivariable linear regression models were used to assess the impact of vitamin D levels, height Z-score, weight Z-score, and BMI Z-score on subtotal body BMD Z-score, adjusted for sex assigned at birth and age. Results Sixty-four patients were included in our analysis. Of these, 73% were AMAB and 27% AFAB. Gender identity was male in 14%, female in 44%, and non-binary in 42%. Average height Z-score was 0.12, weight Z-score 0.27, and BMI Z-score 0.22 (using sex assigned at birth). Subtotal body BMD Z-scores were greater than zero in 11%, between zero and greater than -2 in 59%, and less than or equal to -2 in 30% of tested patients. AMAB patients had lower BMD Z-scores compared to those AFAB (p&lt;0.05 for all Z-scores). There was a positive association with BMI, height, and weight Z-scores and increasing BMD Z-scores after adjusting for sex assigned at birth and age (p&lt;0.05 for all Z-scores). Patients who consumed &lt;2 servings of calcium per day had lower BMD Z-scores (p&lt;0.05 for all Z-scores). Average vitamin D level was 24 ng/ml (+/- 9.5 SD) with no significant association with BMD Z-scores (adjusted for sex assigned at birth). Conclusions Patients AMAB and patients with calcium intake of &lt; 2 servings/day are associated with lower baseline BMD in a cohort of adolescents seen in a multidisciplinary gender clinic. Height, weight, and BMI are associated linearly with BMD Z-score, following patterns previously described in other populations.

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